A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities

A novel Asp121Asn mutation of myelin protein zero is associated with late-onset axonal Charcot-Marie-Tooth disease, hearing loss and pupil abnormalities

Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine–Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report pheno...

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Bibliographic Details
Main Authors: Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-09-01
Series:Frontiers in Aging Neuroscience
Subjects:
Hearing Loss
Novel mutation
Myelin protein zero
Charcot–Marie–Tooth disease
pupil abnormalities
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00222/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00222/full

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